Incidental Mutation 'R8866:Dlgap1'
| ID |
675969 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dlgap1
|
| Ensembl Gene |
ENSMUSG00000003279 |
| Gene Name |
DLG associated protein 1 |
| Synonyms |
Sapap1, Gkap, GKAP/SAPAP, SAPAP1, D17Bwg0511e, DAP-1 beta, 4933422O14Rik |
| MMRRC Submission |
068742-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8866 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
70276068-71128408 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70823435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 140
(H140L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060072]
[ENSMUST00000133983]
[ENSMUST00000135938]
[ENSMUST00000146730]
[ENSMUST00000155016]
|
| AlphaFold |
Q9D415 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060072
AA Change: H140L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052858
Gene: ENSMUSG00000003279
AA Change: H140L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
180 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
539 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
559 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
642 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
643 |
982 |
6.8e-139 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133983
AA Change: H140L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116716
Gene: ENSMUSG00000003279
AA Change: H140L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
180 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
539 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
559 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
642 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
643 |
982 |
6.8e-139 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135938
AA Change: H140L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118497
Gene: ENSMUSG00000003279
AA Change: H140L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
180 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
610 |
624 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
625 |
964 |
9.3e-139 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146730
AA Change: H140L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116072
Gene: ENSMUSG00000003279
AA Change: H140L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
180 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
569 |
N/A |
INTRINSIC |
|
low complexity region
|
638 |
652 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
653 |
933 |
9.5e-106 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155016
AA Change: H140L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122896
Gene: ENSMUSG00000003279
AA Change: H140L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
180 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
569 |
N/A |
INTRINSIC |
|
low complexity region
|
638 |
652 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
660 |
992 |
2e-153 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
C |
T |
3: 59,914,511 (GRCm39) |
T38I |
probably benign |
Het |
| Arhgap1 |
G |
T |
2: 91,499,744 (GRCm39) |
S293I |
probably benign |
Het |
| Arhgap45 |
C |
A |
10: 79,853,750 (GRCm39) |
P88Q |
probably damaging |
Het |
| Atg9a |
A |
C |
1: 75,161,867 (GRCm39) |
F560V |
probably damaging |
Het |
| Btaf1 |
T |
A |
19: 36,935,901 (GRCm39) |
N230K |
probably benign |
Het |
| Ccne1 |
A |
C |
7: 37,800,046 (GRCm39) |
H179Q |
probably benign |
Het |
| Dbr1 |
T |
A |
9: 99,460,497 (GRCm39) |
L109* |
probably null |
Het |
| Dchs1 |
G |
T |
7: 105,404,597 (GRCm39) |
N2648K |
probably benign |
Het |
| Ddx47 |
A |
G |
6: 135,000,356 (GRCm39) |
K451E |
probably benign |
Het |
| Dnah11 |
T |
A |
12: 118,156,107 (GRCm39) |
H181L |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,602,333 (GRCm39) |
C2074R |
probably damaging |
Het |
| Ell2 |
A |
T |
13: 75,917,793 (GRCm39) |
Q574H |
probably damaging |
Het |
| Eloa |
A |
C |
4: 135,737,538 (GRCm39) |
|
probably null |
Het |
| Epha7 |
A |
G |
4: 28,821,614 (GRCm39) |
I260V |
probably benign |
Het |
| Fbp2 |
T |
C |
13: 62,989,709 (GRCm39) |
K199R |
probably benign |
Het |
| Fetub |
A |
T |
16: 22,758,321 (GRCm39) |
E368V |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,810,521 (GRCm39) |
Q2280R |
probably benign |
Het |
| Fstl4 |
A |
G |
11: 52,963,233 (GRCm39) |
E205G |
possibly damaging |
Het |
| Gm5592 |
A |
T |
7: 40,938,246 (GRCm39) |
R509S |
possibly damaging |
Het |
| Gpld1 |
A |
G |
13: 25,170,890 (GRCm39) |
T794A |
probably benign |
Het |
| Gsk3b |
A |
G |
16: 38,004,900 (GRCm39) |
Y157C |
probably damaging |
Het |
| Hgs |
A |
G |
11: 120,360,464 (GRCm39) |
N54S |
probably benign |
Het |
| Hydin |
G |
A |
8: 111,308,779 (GRCm39) |
V4022M |
possibly damaging |
Het |
| Kank1 |
T |
C |
19: 25,388,702 (GRCm39) |
S792P |
possibly damaging |
Het |
| Kctd4 |
A |
G |
14: 76,200,465 (GRCm39) |
I145M |
probably benign |
Het |
| Klra5 |
A |
T |
6: 129,880,533 (GRCm39) |
W212R |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,445,785 (GRCm39) |
N1009K |
probably benign |
Het |
| Lrrc10 |
T |
A |
10: 116,881,858 (GRCm39) |
N177K |
probably damaging |
Het |
| Lrrc39 |
T |
A |
3: 116,363,790 (GRCm39) |
I121N |
probably damaging |
Het |
| Mov10l1 |
A |
T |
15: 88,896,169 (GRCm39) |
D671V |
probably benign |
Het |
| Ndel1 |
A |
G |
11: 68,734,645 (GRCm39) |
|
probably null |
Het |
| Or10g3 |
A |
T |
14: 52,610,196 (GRCm39) |
Y105N |
probably damaging |
Het |
| Or1e27-ps1 |
A |
G |
11: 73,555,825 (GRCm39) |
Y130C |
probably damaging |
Het |
| Or1e32 |
A |
T |
11: 73,705,237 (GRCm39) |
S224T |
probably damaging |
Het |
| Or51a43 |
A |
T |
7: 103,718,119 (GRCm39) |
S40T |
probably damaging |
Het |
| Otop2 |
A |
G |
11: 115,220,354 (GRCm39) |
D398G |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,792,051 (GRCm39) |
V1246A |
probably damaging |
Het |
| Polr3b |
T |
A |
10: 84,531,555 (GRCm39) |
D810E |
probably benign |
Het |
| Ppl |
T |
A |
16: 4,920,211 (GRCm39) |
T395S |
probably benign |
Het |
| Ptprm |
G |
A |
17: 67,116,630 (GRCm39) |
A883V |
probably benign |
Het |
| Rapgef6 |
G |
A |
11: 54,443,700 (GRCm39) |
|
probably null |
Het |
| Rbm12 |
A |
T |
2: 155,938,693 (GRCm39) |
Y526* |
probably null |
Het |
| Rbm15b |
C |
T |
9: 106,763,595 (GRCm39) |
R191Q |
probably benign |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGACGGCGGCG |
7: 97,229,120 (GRCm39) |
|
probably benign |
Het |
| Rxylt1 |
A |
G |
10: 121,924,953 (GRCm39) |
Y250H |
probably damaging |
Het |
| Serpinb6c |
A |
T |
13: 34,083,309 (GRCm39) |
I35N |
probably damaging |
Het |
| Setd4 |
A |
G |
16: 93,386,961 (GRCm39) |
F246L |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,964,986 (GRCm39) |
S865G |
probably benign |
Het |
| Skint6 |
T |
C |
4: 112,711,650 (GRCm39) |
N956D |
probably benign |
Het |
| Slc30a3 |
C |
A |
5: 31,245,325 (GRCm39) |
V332F |
possibly damaging |
Het |
| Smg1 |
A |
G |
7: 117,806,122 (GRCm39) |
S240P |
unknown |
Het |
| Tank |
T |
A |
2: 61,409,005 (GRCm39) |
S7R |
probably benign |
Het |
| Tecpr1 |
T |
C |
5: 144,153,117 (GRCm39) |
E204G |
possibly damaging |
Het |
| Tmem74 |
A |
G |
15: 43,730,231 (GRCm39) |
S271P |
probably damaging |
Het |
| Tor4a |
T |
C |
2: 25,084,965 (GRCm39) |
M313V |
probably benign |
Het |
| Tpd52l2 |
A |
G |
2: 181,154,861 (GRCm39) |
D192G |
probably damaging |
Het |
| Trim29 |
T |
C |
9: 43,222,945 (GRCm39) |
V258A |
probably damaging |
Het |
| Ttc39c |
A |
T |
18: 12,831,003 (GRCm39) |
S288C |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,592,675 (GRCm39) |
E20819G |
probably damaging |
Het |
| Twnk |
C |
T |
19: 45,000,272 (GRCm39) |
Q663* |
probably null |
Het |
| Ucn |
T |
A |
5: 31,295,857 (GRCm39) |
Q3L |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,629,388 (GRCm39) |
G1295E |
probably benign |
Het |
| Usp9y |
C |
T |
Y: 1,395,758 (GRCm39) |
R492H |
probably damaging |
Het |
| Vars1 |
T |
C |
17: 35,234,620 (GRCm39) |
S1150P |
probably benign |
Het |
| Vwa5b1 |
T |
G |
4: 138,327,628 (GRCm39) |
E316A |
probably damaging |
Het |
| Zc3h7b |
G |
A |
15: 81,656,681 (GRCm39) |
R166Q |
probably benign |
Het |
| Zfp839 |
A |
G |
12: 110,834,848 (GRCm39) |
E701G |
probably benign |
Het |
| Zfp931 |
A |
T |
2: 177,710,178 (GRCm39) |
C69* |
probably null |
Het |
|
| Other mutations in Dlgap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Dlgap1
|
APN |
17 |
70,823,080 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01413:Dlgap1
|
APN |
17 |
70,823,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01531:Dlgap1
|
APN |
17 |
70,823,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02226:Dlgap1
|
APN |
17 |
70,823,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB009:Dlgap1
|
UTSW |
17 |
70,823,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB019:Dlgap1
|
UTSW |
17 |
70,823,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0453:Dlgap1
|
UTSW |
17 |
71,068,341 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0482:Dlgap1
|
UTSW |
17 |
70,823,185 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0520:Dlgap1
|
UTSW |
17 |
70,823,989 (GRCm39) |
nonsense |
probably null |
|
|
R1951:Dlgap1
|
UTSW |
17 |
71,068,306 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2072:Dlgap1
|
UTSW |
17 |
70,969,765 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2076:Dlgap1
|
UTSW |
17 |
71,093,826 (GRCm39) |
nonsense |
probably null |
|
|
R3438:Dlgap1
|
UTSW |
17 |
70,823,356 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3743:Dlgap1
|
UTSW |
17 |
71,025,221 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3881:Dlgap1
|
UTSW |
17 |
71,093,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3981:Dlgap1
|
UTSW |
17 |
70,823,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4043:Dlgap1
|
UTSW |
17 |
71,068,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4272:Dlgap1
|
UTSW |
17 |
71,073,038 (GRCm39) |
missense |
probably benign |
|
|
R4273:Dlgap1
|
UTSW |
17 |
71,073,038 (GRCm39) |
missense |
probably benign |
|
|
R4557:Dlgap1
|
UTSW |
17 |
70,823,684 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4652:Dlgap1
|
UTSW |
17 |
71,068,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Dlgap1
|
UTSW |
17 |
70,900,375 (GRCm39) |
nonsense |
probably null |
|
|
R5000:Dlgap1
|
UTSW |
17 |
71,073,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5004:Dlgap1
|
UTSW |
17 |
71,025,222 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5291:Dlgap1
|
UTSW |
17 |
71,025,205 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5304:Dlgap1
|
UTSW |
17 |
71,122,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5473:Dlgap1
|
UTSW |
17 |
70,824,025 (GRCm39) |
intron |
probably benign |
|
|
R5522:Dlgap1
|
UTSW |
17 |
70,823,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5586:Dlgap1
|
UTSW |
17 |
71,125,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5742:Dlgap1
|
UTSW |
17 |
71,025,194 (GRCm39) |
missense |
probably benign |
|
|
R5802:Dlgap1
|
UTSW |
17 |
71,073,086 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5850:Dlgap1
|
UTSW |
17 |
71,094,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5857:Dlgap1
|
UTSW |
17 |
71,122,388 (GRCm39) |
intron |
probably benign |
|
|
R5883:Dlgap1
|
UTSW |
17 |
70,824,008 (GRCm39) |
intron |
probably benign |
|
|
R6045:Dlgap1
|
UTSW |
17 |
71,125,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6336:Dlgap1
|
UTSW |
17 |
71,122,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6448:Dlgap1
|
UTSW |
17 |
70,900,325 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6682:Dlgap1
|
UTSW |
17 |
71,094,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6795:Dlgap1
|
UTSW |
17 |
71,125,069 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7147:Dlgap1
|
UTSW |
17 |
70,969,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7187:Dlgap1
|
UTSW |
17 |
70,823,093 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7382:Dlgap1
|
UTSW |
17 |
71,094,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7859:Dlgap1
|
UTSW |
17 |
70,823,683 (GRCm39) |
missense |
probably benign |
|
|
R7932:Dlgap1
|
UTSW |
17 |
70,823,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8477:Dlgap1
|
UTSW |
17 |
70,823,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8673:Dlgap1
|
UTSW |
17 |
71,122,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8910:Dlgap1
|
UTSW |
17 |
71,093,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8997:Dlgap1
|
UTSW |
17 |
70,823,528 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9012:Dlgap1
|
UTSW |
17 |
70,823,182 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9035:Dlgap1
|
UTSW |
17 |
70,823,855 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9067:Dlgap1
|
UTSW |
17 |
71,116,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9361:Dlgap1
|
UTSW |
17 |
71,068,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9464:Dlgap1
|
UTSW |
17 |
70,823,964 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9550:Dlgap1
|
UTSW |
17 |
71,093,902 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9564:Dlgap1
|
UTSW |
17 |
70,964,458 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9565:Dlgap1
|
UTSW |
17 |
70,964,458 (GRCm39) |
missense |
probably benign |
0.02 |
|
T0975:Dlgap1
|
UTSW |
17 |
70,823,950 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Z1176:Dlgap1
|
UTSW |
17 |
71,122,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dlgap1
|
UTSW |
17 |
70,969,738 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATTCTTTCCAGGCCGAGTG -3'
(R):5'- CATTGGATCTAGCCTTGGATTCTG -3'
Sequencing Primer
(F):5'- TTTCCAGGCCGAGTGCGTAG -3'
(R):5'- AGCCTTGGATTCTGATCGC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation